Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Rıza Köksal Özgül"'
Publikováno v:
SOUTHERN JOURNAL OF SCIENCES. 30:32-46
Background: Coronavirus Disease-2019 (COVID-19) appears in individuals asymptomatically and in various symptomatic forms. Symptomatic diversity can result in diagnosis failures, hospitalization, admission to intensive care, multi-organ failure, and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98936985b7ef1d9b674299151e8728db
https://doi.org/10.48141/sjs.v30.n34.2022.04_atceken_pgs_32_46.pdf
https://doi.org/10.48141/sjs.v30.n34.2022.04_atceken_pgs_32_46.pdf
Publikováno v:
Klinische Pädiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff36f20eef0897b65324c41a28c2318f
https://doi.org/10.1055/a-1970-6353
https://doi.org/10.1055/a-1970-6353
Autor:
Yeliz Z. Akkaya-Ulum, Banu Balci-Peynircioglu, Basak Kayaoglu, Burcu Balci-Hayta, Deniz Cagdas, Fatma Gumruk, Rıza Köksal Özgül, Selin Aytac, Naz Surucu, Cagman Tan, Mayda Gursel, Seza Ozen, Ilhan Tezcan, Ayse Tulay Aydinoglu
Publikováno v:
Molecular Immunology. 121:28-37
H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow. Autoinflammation and autoim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5718f4bd5fbfc0961e32b2875f454618
https://doi.org/10.1016/j.molimm.2020.02.014
https://doi.org/10.1016/j.molimm.2020.02.014
Autor:
Yasemin, Düzçeker, Melis, Pehlivantürk-Kızılkan, Sinem, Akgül, Rıza Köksal, Özgül, Nuray, Kanbur, Orhan, Derman
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Androgen receptor gene CAG repeat, AR (CAG)n, polymorphism is thought to have an effect on male reproductive functions and a relationship between long AR (CAG)n and decreased androgenic activity has been shown. Therefore, we hypothesized t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e969fb84182307e436157bc7ea92b2
https://doi.org/10.1515/jpem-2021-0441
https://doi.org/10.1515/jpem-2021-0441
Autor:
Ali Dursun, Meltem Akcaboy, Deniz Yuksel, Fatma Zehra Öztek Çelebi, Can Kosukcu, Incilay Lay, Rıza Köksal Özgül, Gülseren Evirgen Şahin, Yasemin Tasci Yildiz, Yılmaz Yıldız, Caner Aytekin, Damla Aygün
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::282af742f8f23fedddb6d11ea878bf41
https://doi.org/10.1111/cge.14002/v2/response1
https://doi.org/10.1111/cge.14002/v2/response1
Autor:
Gülseren Evirgen Şahin, Deniz Yüksel, Fatma Zehra Öztek Çelebi, Incilay Lay, Rıza Köksal Özgül, Ali Dursun, Damla Aygün, Yasemin Tasci Yildiz, Meltem Akcaboy, Yilmaz Yildiz, Can Kosukcu, Caner Aytekin
Publikováno v:
Clinical geneticsREFERENCES. 100(3)
Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16 and VPS33A proteins, is involved in tethering of endosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed316b7d9789880e43d5490d38e2e56
https://pubmed.ncbi.nlm.nih.gov/34013567
https://pubmed.ncbi.nlm.nih.gov/34013567
Publikováno v:
Journal of Cell Science. 134
Bone marrow (BM) niches are special microenvironments that work in harmony with each other for the regulation and maintenance of hematopoiesis. Niche investigations have thus far been limited to various model organisms and animal studies; therefore,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d21dd2967f9284db2a4891525054e38
https://doi.org/10.1242/jcs.250720
https://doi.org/10.1242/jcs.250720
Autor:
Canan Unal, Gizem Ürel Demir, Murat Cagan, Mehmet Sinan Beksac, Rıza Köksal Özgül, Erdem Fadiloglu
Publikováno v:
Case Reports in Perinatal Medicine. 10
Objectives Recurrent pregnancy loss (RPL) is a devastating complication of pregnancy with various etiologic backgrounds. Case presentation We present a case of combined oxidative phosphorylation deficiency 3 (COXPD3) carrier pregnant woman with Methy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e1714c06106d4342c777bdf781f9286
https://doi.org/10.1515/crpm-2020-0085
https://doi.org/10.1515/crpm-2020-0085
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Background Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane of the lung, small intestine,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b25c8092ffcfd81d1b31e6e34f3654
https://doi.org/10.1186/s43042-020-00084-2
https://doi.org/10.1186/s43042-020-00084-2
Publikováno v:
The Turkish journal of pediatrics. 62(1)
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inborn error of mitochondrial fatty acid oxidation and protein misfolding disorder. Our aim was to detect the number of Turkish patients diagnosed with SCADD in the literature and to det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995c14836bbf76646171910f02623e5c
https://pubmed.ncbi.nlm.nih.gov/32253862
https://pubmed.ncbi.nlm.nih.gov/32253862